Sunday, October 19, 2008

Operation CDKL5!

Our Yahoo group has grown so much over the past couple of months, that we are all having a hard time keeping up with who's who! One of our members has begun the process of creating an international cdkl5 non-profit, others have volunteered to create/sell cdkl5 awareness merchandise, and I have volunteered to create the first official newsletter! We are all very excited about the "progress" being made and I look forward to being a part of the whole thing. If anyone has a good name for our newsletter, drop me a line!

As far as research goes, we just received exciting news from our group's geneticist. He was recently awarded $405,000 to research this particular mutation!!! It obviously is not nearly enough for our long term goals, but it is certainly a step in the right direction. We are incredibly honored to have him fighting so hard for us. Only two countries, Australia and Italy, have current research focusing on cdkl5. It's pretty upsetting to see that America has no interest - yet. That's where our teeny tiny group comes in! Here's where I say, things happen for a reason; I gained a lot of experience and exposure working for a non-profit organization in the past and now I am hoping my knowledge will pay off. 

As for baby J, she's still having a rough time of things. Still seizing a lot, not the round the clock she was experiencing last week and up until a few days ago, but close enough. We dropped her Keppra back down and we have already noticed that she is a little more "awake" and a bit more vocal. She's also very snotty with a lot of wet sneezes and congestion in her throat. We had to give her a breathing treatment several nights ago because she was wheezing so bad it appeared she couldn't get enough oxygen. Three a.m. and I'm fumbling to figure out how to set the damn machine up! Thank god for P's knowledge in that area :)

And....we added our new member today! Please welcome Tebow (yes Gators fans, that's who!). He is an 8 week old American Bulldog. He's much calmer than Stryker and he seems to be able to hold his urine!! It's our first night with him tonight. Guess I should go to bed now since I'm sure he will have me up a few times. Crossing my fingers...!

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Our peanut in a nutshell...

Hi everyone! Thanks for visiting my blog. My name is Jade and I am currently 8 years old. I have a big sister and a big brother whom I love very very much.

I have a very rare neurological disorder that isn't even named yet! It is a genetic mutation called CDKL5. It is considered a variant of Rett Syndrome and presently, I am only one of around 600 or so children in the world documented to have this mutation. Each child is unique in that his or her symptoms vary quite a bit. Unfortunately, I am one of those children who is affected much more severely than most of the kids.

Some of the problems I face include:

Reflux (in October 2006, I had surgery to have a Nissen Fundoplication done and to have a gastrostomy tube inserted for feedings). As of March 2012, I have a GJ tube for continuous feeds.

I am hypotonic - I have virtually no muscle tone and I find it difficult to even hold my head up on my own.

I have cortical vision impairment - my brain doesn't process the images it sees. Sometimes I see off to the side, sometimes, my vision is shuttered, sometimes I don't have any vision at all. The doctors and my Mom and Dad don't really know how or what I see because I can't tell them.

I cannot talk nor communicate with gestures.

I cannot walk, nor will I ever walk.

I grind my teeth. So much so, that some loosen during seizures.

I cannot grasp objects or use my hands for the simplest of tasks.

I cannot sit on my own. I can, however, sort of roll over from side to side.

I am choreoathetoid. I cannot control the jerky movements my arms and legs make.

I have life-threatening seizures every day. This is my greatest challenge.

So, now that you have gotten to know me, please feel free to take a stroll around my blog. Some of it you read may seem depressing, horrible, unfathomable, and downright crazy. But, this is my life.

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